A natural autoantibody is encoded by germline heavy and lambda light chain variable region genes without somatic mutation. [PDF]
Katherine A. Siminovitch+4 more
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Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female Germline [PDF]
José A. J. M. van den Hurk+12 more
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Germline Mutations of the PTEN/MMAC1 Gene in Japanese Patients with Cowden Disease [PDF]
Takashi Kohno+4 more
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A Germline Mutation of the TSH Receptor (TSH-R) Gene Associated with Thyrotoxicosis and Mitral Valve Prolapse (MVP) in a Chinese Family [PDF]
D. H. C. Khoo, Gilbert Vassart
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Emergence of secondary acute leukemia in a patient treated for osteosarcoma: implications of germline TP53 mutations [PDF]
Carlos Panizo+5 more
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Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations [PDF]
Ying Wu+9 more
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Peutz-Jeghers syndrome: Four novel inactivating germline mutations in theSTK11 gene [PDF]
Roland Kruse+13 more
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Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis [PDF]
Xiaoping Zhou
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The Relationship Between Frequencies of Extracolonic Manifestations and the Position of APC Germline Mutation in Patients with Familial Adenomatous Polyposis [PDF]
Masaya Enomoto
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PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism [PDF]
Jeanne Amiel+14 more
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